ClinVar Miner

Variants studied for hereditary gallbladder disorder

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
15 7 27 2 1 50

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
ABCB4 13 7 14 0 0 32
ABCG8 1 0 12 2 1 16
ABCB4, LOC129998757 0 0 1 0 0 1
ABCG5, ABCG8 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Fulgent Genetics, Fulgent Genetics 2 0 15 2 1 20
OMIM 7 0 0 0 0 7
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 2 4 0 0 7
Mendelics 4 0 0 0 0 4
Illumina Laboratory Services, Illumina 1 1 1 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 0 0 2
Centogene AG - the Rare Disease Company 0 0 1 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 1 0 0 1
Gregorio Maranon General University Hospital, Gregorio Maranon Health Research Institute 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 1
Department of Genetics, Suzhou Beikang Medical Laboratory 0 1 0 0 0 1

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